ClinVar Miner

List of variants in gene VPS35 reported as likely benign for basal ganglia disorder

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_018206.6(VPS35):c.*289C>T rs145606241 0.00272
NM_018206.6(VPS35):c.2241C>T (p.Ile747=) rs140543776 0.00159
NM_018206.6(VPS35):c.834T>C (p.Thr278=) rs148572750 0.00093
NM_018206.6(VPS35):c.-35C>T rs189775907 0.00054
NM_018206.6(VPS35):c.2145A>G (p.Leu715=) rs145033509 0.00052
NM_018206.6(VPS35):c.1368+17G>A rs183091274 0.00048
NM_018206.6(VPS35):c.1020A>G (p.Gln340=) rs188883365 0.00030
NM_018206.6(VPS35):c.945A>T (p.Gly315=) rs144346159 0.00023
NM_018206.6(VPS35):c.1881C>T (p.Ala627=) rs138794859 0.00014
NM_018206.6(VPS35):c.959C>T (p.Ala320Val) rs747944333 0.00013
NM_018206.6(VPS35):c.*34A>G rs779980787 0.00008
NM_018206.6(VPS35):c.678C>T (p.Arg226=) rs376845827 0.00006
NM_018206.6(VPS35):c.4-15T>C rs767613585 0.00003
NM_018206.6(VPS35):c.1317T>C (p.Tyr439=) rs187425753 0.00002
NM_018206.6(VPS35):c.1809A>T (p.Ala603=) rs142063738 0.00002
NM_018206.6(VPS35):c.1893C>T (p.Ile631=) rs1183192271 0.00002
NM_018206.6(VPS35):c.648G>A (p.Leu216=) rs763697798 0.00002
NM_018206.6(VPS35):c.1290C>T (p.Tyr430=) rs368876504 0.00001
NM_018206.6(VPS35):c.1369-9A>G rs762973568 0.00001
NM_018206.6(VPS35):c.1371G>A (p.Val457=) rs1009455831 0.00001
NM_018206.6(VPS35):c.1557T>C (p.Ala519=) rs1463376876 0.00001
NM_018206.6(VPS35):c.2049G>A (p.Thr683=) rs757523799 0.00001
NM_018206.6(VPS35):c.2068-18C>G rs369864421 0.00001
NM_018206.6(VPS35):c.1002A>G (p.Thr334=) rs1966115698
NM_018206.6(VPS35):c.100C>T (p.Leu34=)
NM_018206.6(VPS35):c.103-17T>C
NM_018206.6(VPS35):c.1035G>A (p.Glu345=) rs563975281
NM_018206.6(VPS35):c.1119A>G (p.Leu373=)
NM_018206.6(VPS35):c.1191A>G (p.Glu397=)
NM_018206.6(VPS35):c.1194C>T (p.Leu398=)
NM_018206.6(VPS35):c.1369-12C>T
NM_018206.6(VPS35):c.1369-5T>C
NM_018206.6(VPS35):c.144T>C (p.Asn48=)
NM_018206.6(VPS35):c.1482C>T (p.Phe494=)
NM_018206.6(VPS35):c.1803A>G (p.Thr601=)
NM_018206.6(VPS35):c.199+14G>T
NM_018206.6(VPS35):c.2061G>C (p.Gly687=)
NM_018206.6(VPS35):c.2067+14T>C
NM_018206.6(VPS35):c.2068-19C>T
NM_018206.6(VPS35):c.2181T>C (p.Tyr727=)
NM_018206.6(VPS35):c.2212-10dup
NM_018206.6(VPS35):c.222G>A (p.Leu74=) rs2143008798
NM_018206.6(VPS35):c.2316C>T (p.Asn772=) rs752414695
NM_018206.6(VPS35):c.2364G>T (p.Gly788=)
NM_018206.6(VPS35):c.267G>A (p.Arg89=)
NM_018206.6(VPS35):c.285C>T (p.Tyr95=)
NM_018206.6(VPS35):c.3+17C>T
NM_018206.6(VPS35):c.4-18G>A
NM_018206.6(VPS35):c.507-14C>G
NM_018206.6(VPS35):c.721-16G>A
NM_018206.6(VPS35):c.762G>A (p.Arg254=)
NM_018206.6(VPS35):c.894A>C (p.Ile298=)
NM_018206.6(VPS35):c.914+11C>A rs1966155977
NM_018206.6(VPS35):c.914+16A>G
NM_018206.6(VPS35):c.915-16T>G rs757051230
NM_018206.6(VPS35):c.915-17G>T
NM_018206.6(VPS35):c.942T>C (p.Asp314=)
NM_018206.6(VPS35):c.978T>C (p.Asp326=)
NM_018206.6(VPS35):c.9A>C (p.Thr3=) rs1364157460

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